Doctors suspected Rose might have a rare condition at her mum’s 20-week scan – and it wasn’t long before she started experiencing horrible seizures
Rose has taken part in more research since receiving her diagnosis, including donating skin cells to help the team produce brain stem cells for epilepsy research(Image: Family handout)
Just 20 weeks into her pregnancy, mum Lyn Anderson was given news all parents dread.
Lyn was told at the 20-week scan that her baby might have a rare genetic condition – and could spend her life with serious complications.
When she was born, baby Rose suffered through seizure after seizure, before being hit with developmental delays as she grew into a little girl.
Despite extensive genetic testing, medics could never find a cause for Rose’s difficult symptoms.
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But now, two previously unknown, but very common, genetic disorders have been discovered by Manchester scientists.
The discovery promises to improve the diagnosis of neurodevelopmental conditions, and spell new treatments in the future, for thousands around the world – including Rose Anderson.
Since the major breakthrough, the 18-year-old from Stretford has received a diagnosis of one of the newly discovered conditions.
Rose has been known to the team at the Manchester Centre for Genomic Medicine at Manchester University NHS Foundation Trust (MFT) for nearly her whole life, although a precise diagnosis for her seizures and developmental delay had been impossible to find until now.
Lyn said: “You wonder if it’s just a random thing that has happened or parents sometimes look to themselves for the cause.
“Rose first started experiencing seizures when she was a baby – she would become flushed, very vacant and would loll her head to one side.
“After a bad seizure when she was two-and-a-half years old, Rose was diagnosed with epilepsy. She occasionally has seizures now, but these are better managed with medication.
“When Rose went to nursery, younger children began overtaking her with early developmental milestones.”
Rose loves music, walking, swimming, visiting cafes and riding a tandem bike(Image: Family handout)
Rose loves music, walking, swimming, visiting cafes and riding a tandem bike. She lives with her mum, dad Joe and younger sister, Lily.
Still, the passing years were hard for the family, but all the while, scientists in Manchester were working to get them answers.
“Rose is non-verbal and is great at communicating using objects and symbols,” explained Lyn.
“She experiences hyperventilation (rapid breathing), can struggle with spatial awareness and needs support with eating and personal care.”
Researchers from the NIHR Manchester BRC, MFT, and The University of Manchester (UoM) collaborated with scientists across the globe to analyse the genetic data of thousands of individuals including those who took part in the 100,000 Genomes Project – an initiative to sequence and study the role genes play in health and disease.
Genes are sections of our DNA and contain the instructions for building proteins, which are needed by the body for cell growth and repair.
Parts of our genes that do not make proteins have previously been dismissed as ‘dark matter’ because they were not understood, or ‘junk DNA’ because it was thought they were not essential.
Manchester researchers challenged these assumptions, showing that changes in these regions play a crucial role in brain development.
Lyn was told at the 20-week scan that her baby might have a rare genetic condition(Image: Family handout)
The team found that mutations in regions of the genome that form R-loops – special structures that can influence genetic activity – are more common than previously thought. Identifying the mutation was a ‘one-year process’, according to Manchester scientists and academic Dr Adam Jackson, who led the study.
This insight led them to uncover two new neurodevelopmental conditions: RNU2-2-related disorder, which is linked to developmental delays, intellectual disability, small head size, autistic traits and seizures; and RNU5B-1-related disorder, associated with developmental delays, weak muscle tone, larger-than-average head size, and poor growth.
Neurodevelopmental conditions – disorders that affect brain development – impact two to five per cent of people worldwide.
For many families, these conditions remain a mystery, as current genetic tests often fail to find a cause.
But the two newly discovered conditions, along with a third found in 2024, account for more several thousands of unsolved cases.
Rose was diagnosed with RNU2-2-related disorder in October 2024.
On receiving the news from the Manchester research team last year, Rose’s mum Lyn said: “We felt excited and relieved to finally receive Rose’s diagnosis.
“Rose is a very happy person, and with any diagnosis, she will always be Rose to us.
“This has helped us pinpoint what has caused her to be the way she is.”
Rose and her family are working with the Manchester team to help them better understand RNU2-2 related disorder.
Rose has also taken part in more research since receiving her diagnosis, including donating skin cells to help the team produce brain stem cells for epilepsy research.
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The groundbreaking discoveries come from a study delivered through the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Centre (BRC).
Professor Siddharth Banka, senior author of the study who oversaw the research, explained the next steps for the research: “We now want to understand these conditions better, such as how do their symptoms evolve over time, are there any associated complications and discover potential treatment options.
“We also need to understand the mechanism of the disease better – how exactly are these genetic mutations causing neurodevelopmental conditions?
“With this information, we hope to identify treatments and therapies, and make these available for patients.”